view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2887): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 274 | 0.0036 | 2894 | c.130 others(2911): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2887): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0339 | 1 | 274 | 0.0036 | 2894 | c.130 others(2911): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2887): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 274 | 0.0036 | 2894 | c.130 others(2911): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(2888): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18975.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0146 a0002c0002t0010g0145 |
2 | 120 | 0.0167 | 2895 | c.62+ others(2908): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(2888): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0211 | 1 | 119 | 0.0084 | 2895 | c.62+ others(2908): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2888): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0194 | 1 | 288 | 0.0035 | 2895 | c.96+ others(2910): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2888): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0013a0004c0008t0002 | a0001c0002t0013g0122 a0004c0008t0002g0018 |
2 | 167 | 0.0120 | 2895 | c.173 others(2916): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2888): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0101 | 1 | 166 | 0.0060 | 2895 | c.173 others(2916): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2888): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129 | 1 | 166 | 0.0060 | 2895 | c.173 others(2916): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2888): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0066 | 1 | 166 | 0.0060 | 2895 | c.173 others(2916): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2888): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0025 | 1 | 166 | 0.0060 | 2895 | c.173 others(2916): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2888): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0104 | 1 | 2 | 0.5000 | 2895 | c.126 others(2912): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGAAAA others(2888): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0026 | a0001c0026t0005 | a0001c0026t0005g0246 | 1 | 234 | 0.0043 | 2895 | c.157 others(2912): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2888): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 233 | 0.0043 | 2895 | c.-91 others(2916): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2888): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 7 | 0.1429 | 2895 | c.*27 others(2906): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2888): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 274 | 0.0036 | 2895 | c.130 others(2912): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2888): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0049 | 1 | 274 | 0.0036 | 2895 | c.130 others(2912): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2888): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 274 | 0.0036 | 2895 | c.130 others(2912): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2888): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 | 1 | 274 | 0.0036 | 2895 | c.130 others(2912): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042996 | G | GGGGGACA others(2888): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 327 | 0.0031 | 2895 | c.-34 others(2906): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3428 | chr15 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2889): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0184 | 1 | 288 | 0.0035 | 2896 | c.96+ others(2911): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2889): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0146 | 1 | 166 | 0.0060 | 2896 | c.173 others(2917): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2889): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0021 | 1 | 166 | 0.0060 | 2896 | c.173 others(2917): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2889): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0017 | 1 | 166 | 0.0060 | 2896 | c.173 others(2917): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2889): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0145 | 1 | 129 | 0.0078 | 2896 | c.280 others(2917): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2889): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0205 | 1 | 233 | 0.0043 | 2896 | c.-91 others(2917): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120429 | G | GGGAGAGG others(2889): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0019 | 1 | 324 | 0.0031 | 2896 | c.353 others(2911): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2889): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0054 a0002c0002t0004g0015 |
2 | 323 | 0.0062 | 2896 | c.-31 others(2907): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2889): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 322 | 0.0031 | 2896 | c.-31 others(2907): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGCGTGTG others(2889): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 3 | 0.3333 | 2896 | c.-34 others(2911): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(2889): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0021 | 2 | 4 | 0.5000 | 2896 | c.-34 others(2911): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(2889): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0008 | a0008c0012 | a0008c0012t0015 | a0008c0012t0015g0085 | 1 | 3 | 0.3333 | 2896 | c.-34 others(2911): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(2889): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0024 a0001c0001t0005g0007 |
6 | 8 | 0.7500 | 2896 | c.-34 others(2911): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2889): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0208 | 1 | 274 | 0.0036 | 2896 | c.130 others(2913): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2889): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0004t0001g0033 |
3 | 137 | 0.0219 | 2896 | c.10- others(2909): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2889): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0162 | 1 | 135 | 0.0074 | 2896 | c.10- others(2909): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2890): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 50 | 0.0200 | 2897 | c.147 others(2914): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2890): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19043.hp2 |
a0002 | a0002c0008 | a0002c0008t0008 | a0002c0008t0008g0010 | 2 | 51 | 0.0392 | 2897 | c.147 others(2914): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2890): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0076 | 1 | 166 | 0.0060 | 2897 | c.173 others(2918): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2890): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0069 | 1 | 166 | 0.0060 | 2897 | c.173 others(2918): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2890): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 146 | 0.0068 | 2897 | c.127 others(2916): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647301 | A | ACAATCCT others(2890): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0014 | a0003c0014t0028 | a0003c0014t0028g0253 | 1 | 213 | 0.0047 | 2897 | c.*51 others(2908): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1957 | chr15 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2890): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0083 | 1 | 8 | 0.1250 | 2897 | c.400 others(2916): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2890): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0144 | 1 | 8 | 0.1250 | 2897 | c.400 others(2916): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2890): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 8 | 0.1250 | 2897 | c.400 others(2916): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2890): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0005 | a0001c0005t0014 | a0001c0005t0014g0302 a0001c0005t0014g0303 a0001c0005t0014g0305 |
3 | 108 | 0.0278 | 2897 | c.353 others(2914): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NCOA3_chr20_47496887_47661872 | 47589926 | T | TTGTTTTC others(2890): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0098 | 1 | 304 | 0.0033 | 2897 | c.-20 others(2914): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2890): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 | 1 | 274 | 0.0036 | 2897 | c.130 others(2914): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2890): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 274 | 0.0036 | 2897 | c.130 others(2914): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930709 | C | CTGGGGTT others(2890): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 2897 | c.*48 others(2908): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4660 | chr11 | TogoVar |